F19V (p.Phe19Val) variant of MSH2 (DNA mismatch repair protein Msh2)
F19V (p.Phe19Val) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
F19V (p.Phe19Val) variant details
- p.Phe19Val
- rs141711342
- ClinGen CA16617545
- ClinVar RCV000486701
- ClinVar RCV000695062
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.78
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available